ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) (rs1064793027)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482506 SCV000564592 likely pathogenic not provided 2016-06-28 criteria provided, single submitter clinical testing A novel E483D missense change likely associated with mucopolysaccharidosis VI (MPSVI) was identified in the ARSB gene. It has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is conservative in that both Glutamic Acid and Aspartic Acid are negatively charged residues; however, this change occurs at a highly conserved position in the ARSB protein and a missense mutation in the neighboring codon (R484G) has been reported previously in association with MPSVI according to the Human Gene Mutation Database. Furthermore, multiple in-silico analysis programs predict that E483D is damaging to the ARSB protein. Therefore, E483D is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000677488 SCV000802997 uncertain significance Mucopolysaccharidosis type VI 2018-01-01 criteria provided, single submitter curation Very low frequency in GnomAD(PM2)

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